Genetic analysis of ATP7B in 102 south Indian families with Wilson disease

Wilson disease (WD) is an autosomal recessive disorder, characterized by excessive deposition of copper in various parts of the body, mainly in the liver and brain. It is caused by mutations in ATP7B. We report here the genetic analysis of 102 WD families from a south Indian population. Thirty-six d...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
الحاوية / القاعدة:PLoS One
المؤلفون الرئيسيون: Singh, Nivedita, Kallollimath, Pradeep, Shah, Mohd Hussain, Kapoor, Saketh, Bhat, Vishwanath Kumble, Viswanathan, Lakshminarayanapuram Gopal, Nagappa, Madhu, Bindu, Parayil S., Taly, Arun B., Sinha, Sanjib, Kumar, Arun
التنسيق: Artigo
اللغة:Inglês
منشور في: Public Library of Science 2019
الموضوعات:
Research Article
الوصول للمادة أونلاين:https://ncbi.nlm.nih.gov/pmc/articles/PMC6502322/
https://ncbi.nlm.nih.gov/pubmed/31059521
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0215779
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